Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients
| العنوان: | Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients |
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| المؤلفون: | Feride Iffet Sahin, Tugce B. Balci, Zafer Koc, Zerrin Yılmaz Çelik, Sema Karakus, Can Boga, Hakan Ozdogu, Yunus Kasim Terzi |
| المصدر: | Turkish Journal of Hematology, Vol 33, Iss 4, Pp 320-325 (2016) Turkish Journal of Hematology Paediatrics Publications |
| بيانات النشر: | Galenos Yayinevi, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, DNA Mutational Analysis, Hemoglobin, Sickle, 030204 cardiovascular system & hematology, Group A, Gastroenterology, 030218 nuclear medicine & medical imaging, 0302 clinical medicine, Gene Frequency, Genotype, Iron overload, Prospective Studies, p.C282Y, Genetics, Homozygote, lcsh:Diseases of the blood and blood-forming organs, Hematology, Magnetic Resonance Imaging, Sickle cell anemia, Hemoglobinopathy, Liver, Hereditary hemochromatosis, Female, Hemochromatosis, HFE gene, Research Article, Adult, lcsh:Internal medicine, medicine.medical_specialty, P.H63D, Anemia, Sickle Cell, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Chelation therapy, Codon, Hemochromatosis Protein, lcsh:RC31-1245, Alleles, P.C282Y, lcsh:RC633-647.5, business.industry, medicine.disease, Cross-Sectional Studies, Amino Acid Substitution, Mutation, p.H63D, Hemoglobin, business, Biomarkers |
| الوصف: | Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated.This is a prospective single-center cross-sectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31) was receiving chelation therapy and the second group (group B, n=13) was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test.p.H63D mutation was detected in 10 (32.3%) patients in group A and in only 1 patient (7.7%) in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046). In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05).Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.Amaç: Hemokromatozis, demir birikiminin önemli nedenlerinden biri olan otozomal resesif bir hastalıktır. Orak hücreli anemi, hemoglobin genindeki homozigot mutasyon sonucu ortaya çıkan bir hemoglobinopatidir. Eritrosit transfüzyonu, bu hastalığın tedavisinde sıklıkla kullanılmaktadır. Transfüzyonun yarattığı demir yükü diğer hemoglobinopatilerde olduğu gibi orak hücreli anemi hastalarının mortalite ve morbiditesinde önem kazanmaktadır. Bu çalışmada hemokromatozis geni (HFE) p.H63D ve p.C282Y mutasyonlarının, homozigot hemoglobin S mutasyonu taşıyan orak hücreli anemi hastalarında, kalp ve karaciğerde transfüzyonla ilişkili demir yüklenmesine olan etkisi araştırılmıştır. Gereç ve Yöntemler: Bu çalışma, homozigot hemoglobin S mutasyonu olan hastalarda 2008-2013 yıllarını kapsayan prospektif, tek merkezli kesitsel bir çalışmadır. Hastalar şelasyon tedavisi alan (n=31) ve almayan (n=13) olarak iki gruba ayrıldı. Hastalarda direk ve endirekt demir yükü sırasıyla manyetik rezonans görüntüleme ve biyokimyasal olarak analiz edildi. HFE geni mutasyon analizi polimeraz zincir reaksiyonu-restriksiyon fragment uzunluk polimorfizmi yöntemleri ile gerçekleştirildi. İstatistik analizi Independent samples t-testi uygulanarak gerçekleştirildi. Bulgular: p.H63D mutasyonu grup A’da 10 hastada (%32,3), grup B’de ise sadece 1 (%7,7) hastada saptandı. Demir birikimi açısından gruplar karşılaştırıldığında karaciğerde demir birikiminin grup B’de istatistiksel olarak anlamlı derecede yüksek olduğu görülmüştür (p0,05). Grup A’da, mutasyonu olan bireylerde olmayanlara göre karaciğerdeki demir birikiminin istatistiksel olarak anlamlı derecede yüksek olduğu görülmüştür (p=0,05). Sonuç: Bu çalışmanın sonucu HFE genindeki mutasyonların, orak hücreli anemi hastalarında karaciğerde demir birikimi üzerinde etkili olduğunu göstermektedir. |
| وصف الملف: | application/pdf |
| تدمد: | 1300-7777 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48505aa5ff33ebd53c09506f17950b6Test https://doi.org/10.4274/tjh.2015.0254Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....c48505aa5ff33ebd53c09506f17950b6 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13007777 |
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